{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8700191",
  "communityStandardTitle": [
    "NM_000789.4(ACE):c.2642-1G>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=362071[alleleid]",
        "alleleId": 362071,
        "preferredName": "NM_000789.4(ACE):c.2642-1G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/375298",
        "RCV": [
          "RCV000416335"
        ],
        "variationId": 375298
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-61568314-G-A",
        "id": "17-61568314-G-A",
        "variant": "17:61568314 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.61568314G>A?assembly=hg19",
        "id": "chr17:g.61568314G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.63490953G>A?assembly=hg38",
        "id": "chr17:g.63490953G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/778390161",
        "rs": 778390161
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-61568314-G-A?dataset=gnomad_r2_1",
        "id": "17-61568314-G-A",
        "variant": "17:61568314 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-63490953-G-A?dataset=gnomad_r3",
        "id": "17-63490953-G-A",
        "variant": "17:63490953 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-63490953-G-A?dataset=gnomad_r4",
        "id": "17-63490953-G-A",
        "variant": "17:63490953 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 63490953,
          "referenceAllele": "G",
          "start": 63490952
        }
      ],
      "hgvs": [
        "NC_000017.11:g.63490953G>A",
        "CM000679.2:g.63490953G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 61568314,
          "referenceAllele": "G",
          "start": 61568313
        }
      ],
      "hgvs": [
        "NC_000017.10:g.61568314G>A",
        "CM000679.1:g.61568314G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 58922046,
          "referenceAllele": "G",
          "start": 58922045
        }
      ],
      "hgvs": [
        "NC_000017.9:g.58922046G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 18881,
          "referenceAllele": "G",
          "start": 18880
        }
      ],
      "hgvs": [
        "NG_011648.1:g.18881G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001881"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2675,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2675,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "ENST00000290866.10:c.2642-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000290866.4:n.2642-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744043",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000290866.10:c.2642-1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000789.4:c.2642-1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000290866.4:n.2642-1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_000780.1:n.2642-1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 947,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 947,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "ENST00000290863.10:c.920-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000290863.6:n.920-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253688"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2665,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2665,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "ENST00000290866.9:c.2642-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000290866.4:n.2642-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253689"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 941,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 941,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "ENST00000413513.7:c.920-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000392247.3:n.920-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS283104"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2675,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2675,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "ENST00000428043.5:c.2642-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000397593.2:n.2642-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290004"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 146,
          "endIntronDirection": "+",
          "endIntronOffset": 925,
          "referenceAllele": "G",
          "start": 146,
          "startIntronDirection": "+",
          "startIntronOffset": 924
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "ENST00000577418.5:n.146+925G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS384850"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 964,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 964,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "hgvs": [
        "ENST00000577647.2:c.920-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000464149.1:n.920-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS384974"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 652,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 652,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "ENST00000578839.5:c.*520-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000462110.2:n.*520-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS385555"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1019,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1019,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "ENST00000579314.5:c.*371-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000462599.1:n.*371-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS385788"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 409,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 409,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "ENST00000582761.1:c.410-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000462909.1:n.410-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS387426"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 606,
          "referenceAllele": "G",
          "start": 605
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "ENST00000583645.1:n.606G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS387847"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 587,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 587,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "ENST00000584865.5:n.588-1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS388417"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2675,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2675,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "NM_000789.3:c.2642-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000780.1:n.2642-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006818"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 970,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 970,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "NM_001178057.1:c.920-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171528.1:n.920-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015832"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 970,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 970,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "NM_152830.2:c.920-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_690043.1:n.920-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042162"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2581,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2581,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "XM_005257110.1:c.2093-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257167.1:n.2093-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061580"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1072,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1072,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "XM_006721737.2:c.980-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721800.2:n.980-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074225"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1083,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1083,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "XM_006721737.3:c.980-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721800.2:n.980-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540365"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2675,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2675,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "NM_000789.4:c.2642-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000780.1:n.2642-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662582",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000290866.10:c.2642-1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000789.4:c.2642-1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000290866.4:n.2642-1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_000780.1:n.2642-1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 941,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 941,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "NM_001178057.2:c.920-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171528.1:n.920-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678926"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 941,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 941,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "NM_152830.3:c.920-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_690043.1:n.920-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700269"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2343,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2343,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "NM_001382700.1:c.2075-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369629.1:n.2075-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722543"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2437,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2437,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "NM_001382701.1:c.1790-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369630.1:n.1790-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722544"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 652,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 652,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "NM_001382702.1:c.380-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369631.1:n.380-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722545"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1019,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1019,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "NR_168483.1:n.1020-1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS732030"
    }
  ],
  "type": "nucleotide"
}